Y125C (p.Tyr125Cys) variant of KRIT1 (O00522)
Y125C (p.Tyr125Cys) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y125C (p.Tyr125Cys) variant details
- p.Tyr125Cys
- Ensembl rs1798468453
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.54
- CADD 29.80
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available